Clinical features
Mutations in the TMEM94 gene cause Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies (IDDCDF), a disorder characterized by intellectual disability with global developmental delay, congenital heart disease, and distinct facial features with variable involvement of the skeletal, respiratory, gastrointestinal, and genitourinary systems.
Prevalence
The prevalence of TMEM94-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.